rs1312663828
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The ENST00000253122.10(SLC6A8):c.1597-4G>A variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000662 in 1,209,181 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 2 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
ENST00000253122.10 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLC6A8 | NM_005629.4 | c.1597-4G>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000253122.10 | NP_005620.1 | |||
SLC6A8 | NM_001142805.2 | c.1567-4G>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | NP_001136277.1 | ||||
SLC6A8 | NM_001142806.1 | c.1252-4G>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | NP_001136278.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC6A8 | ENST00000253122.10 | c.1597-4G>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_005629.4 | ENSP00000253122 | P1 | |||
SLC6A8 | ENST00000430077.6 | c.1252-4G>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 2 | ENSP00000403041 | |||||
SLC6A8 | ENST00000485324.1 | n.1904-4G>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000889 AC: 1AN: 112511Hom.: 0 Cov.: 24 AF XY: 0.0000288 AC XY: 1AN XY: 34691
GnomAD4 exome AF: 0.00000638 AC: 7AN: 1096670Hom.: 0 Cov.: 38 AF XY: 0.00000276 AC XY: 1AN XY: 362716
GnomAD4 genome AF: 0.00000889 AC: 1AN: 112511Hom.: 0 Cov.: 24 AF XY: 0.0000288 AC XY: 1AN XY: 34691
ClinVar
Submissions by phenotype
Creatine transporter deficiency Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Sep 12, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at